Document Detail


Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2).
MedLine Citation:
PMID:  16835929     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report on an 8-year-old girl with near-complete trisomy 17p syndrome due to a de novo unbalanced t(14;17)(p11.2;p11.2). She has features consistent with the previously described cases with complete trisomy 17p, including pre- and post-natal growth retardation, motor and mental retardation, skeletal anomalies, clinodactyly of the 5th finger, hypertrichosis, as well as facial characteristics including microcephaly, receding forehead, ptosis, low-set malformed ears, smooth philtrum, high-arched palate, and a short broad neck. Fluorescence in situ hybridization showed that the breakpoints were p11.2 for both chromosome 14 and 17. Microsatellite analysis showed that the duplicated 17p was of paternal origin, and indicated that the breakpoint involving 17p11.2 is most likely located within the approximately 1-Mb segment from the centromere, and not involving the proximal Smith-Magenis syndrome (SMS) low copy repeat. We compare the clinical features of our patient with those previously reported to further delineate the phenotype of complete trisomy 17p syndrome.
Authors:
Fady M Mikhail; Dawn McIlvried; R Lynn Holt; Ludwine Messiaen; Maria D Descartes; Andrew J Carroll
Related Documents :
16268889 - Ichthyosis follicularis, alopecia and photophobia (ifap) syndrome treated with acitretin.
8281279 - Cornelia de lange syndrome--photo essay.
1157389 - Trisomy 8 syndrome.
12554529 - Evans syndrome in a patient with chromosome 22q11.2 deletion syndrome: a case report.
1668979 - Corpus callosum agenesis and psychosis in andermann syndrome.
10486089 - Cohen syndrome: two new cases in siblings.
25205889 - Effect of premenstrual stress on autonomic function.
10877989 - Maternal outcome following temporizing management of the (h)ellp syndrome.
22083009 - Vasodepressor syncope and recurrent pharyngeal carcinoma: a form of carotid sinus syndr...
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  140     ISSN:  1552-4825     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2006 Aug 
Date Detail:
Created Date:  2006-08-25     Completed Date:  2007-01-16     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1647-54     Citation Subset:  IM    
Copyright Information:
Copyright 2006 Wiley-Liss, Inc.
Affiliation:
Department of Genetics, School of Medicine, University of Alabama at Birmingham, Birmingham, Alabama 35294, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Child
Chromosome Banding
Chromosomes, Human, Pair 14*
Chromosomes, Human, Pair 17*
Cytogenetics
Female
Genotype
Humans
In Situ Hybridization, Fluorescence
Microsatellite Repeats / genetics
Models, Genetic
Phenotype
Syndrome
Translocation, Genetic*
Trisomy / diagnosis*,  genetics*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Staging of intestinal development in the chick embryo.
Next Document:  Opitz trigonocephaly C syndrome in a boy with a de novo balanced reciprocal translocation t(3;18)(q1...